HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312732A>C , CM000673.2:g.118312732A>C | GRCh38 |
NC_000011.9:g.118183447A>C , CM000673.1:g.118183447A>C | GRCh37 |
NC_000011.8:g.117688657A>C | NCBI36 |
NG_007383.1:g.13153A>C , LRG_38:g.13153A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.218A>C MANE Select | ENSP00000354566.4:p.Lys73Thr | |
ENST00000361763.8:c.218A>C | ENSP00000354566.4:p.Lys73Thr | |
ENST00000526146.5:n.764A>C | ||
ENST00000528435.5:n.771A>C | ||
ENST00000528600.1:c.200A>C | ENSP00000433975.1:p.Lys67Thr | |
ENST00000529713.5:n.324A>C | ||
ENST00000531913.1:n.589A>C | ||
NM_000733.3:c.218A>C , LRG_38t1:c.218A>C | NP_000724.1:p.Lys73Thr | |
NM_000733.4:c.218A>C MANE Select | NP_000724.1:p.Lys73Thr |